Although it is rare, Apert syndrome can have a major impact on the families of children who are diagnosed with this condition. For parents, it is natural to have a lot of questions and to want to learn as much as possible. Apert syndrome is a very serious condition that typically has lifelong care needs, but with proper treatment, many children can have a good quality of life, activity, and functional levels.
The following guide can help you learn the basic facts about Apert syndrome in children so you can take the most active role possible in your child’s care. We hope you can use this information to develop an effective treatment and care plan to achieve the best possible outcome for this challenging condition.
What is Apert syndrome?
Apert syndrome is a genetic disorder that causes skeletal deformities and other problems, mainly in the skull. During normal development in the womb, the skull grows from several different bones that slowly form around the brain, eventually fusing together. With Apert syndrome, a mutation can cause the skull to fuse early, which may then lead to visible deformities in the head and/or face. The condition is also associated with a range of other birth defects and complications.
Children with Apert syndrome will usually have a long skull, high forehead, wide-set eyes, and sinking in the middle of the face. The condition often results in decreased intellectual development and emotional and behavioral problems, but this is not always the case.
Apert Syndrome Causes and Risk Factors
Apert syndrome is caused by a mutation to a single gene, called FGFR2, which affects approximately one in 65,000 children. The mutation causes abnormal signaling that promotes premature fusion of bones, particularly in the skull, hands, and feet. In most cases, researchers believe the mutation to be random and there is usually not a history of this condition that can be identified in families.
Although parents of any age can have a child with Apert syndrome, there may be a higher risk of the condition in older fathers.
Apert Syndrome Symptoms
Identifiable signs and symptoms of Apert syndrome include:
Deformities to the skull, including elongation and sinking in the middle of the face
Eye problems, including wide-set eyes, downward-facing eyes, eyes pointing in opposite direction, and extreme dryness
Delayed intellectual development due to increased pressure on the brain
Conjoined toes and fingers, or webbed toes and hands
Apert Syndrome Complications
Complications associated with Apert syndrome can include increased sinus and ear infections, breathing problems and sleep apnea, gastrointestinal problems, and urinary problems. Symptoms and complications can vary widely based on the severity of the condition. The long-term prognosis is highly dependent on identifying and treating the condition as early as possible through surgery and other means. Life expectancy and quality of life can also be impacted by the presence of heart conditions and respiratory complications.
How is Apert syndrome diagnosed?
Due to the visible deformities, Apert syndrome is most often diagnosed at birth based on sight. Genetic testing before birth or upon visual diagnosis can confirm the presence of the mutation.
Apert Syndrome Treatment
There is no cure for Apert syndrome, but there is a range of effective treatments. Surgery is the primary method of care in a large number of situations. The goals of surgical procedures can include:
Releasing premature fusion by rearranging bones and relieving pressure on the developing brain
Addressing midface alignment by bringing bones in the cheeks and jaws forward
Correcting wide-set eyes by removing a piece of bone in the skull
The skull bone fusion release procedure will usually be performed early in life, while other procedures are generally recommended when the child is older.
Other treatments include eye drops to prevent the eyes from drying out excessively, a continuous positive airway pressure (CPAP) machine or breathing tubes to address sleep apnea, and antibiotics and/or surgical ear tube placement to treat infections.
Caring for a Child With Apert Syndrome
Children with this condition can have care needs that range from relatively minor to advanced depending on the individual diagnosis. Emotional and behavioral care may be required to help children cope with Apert’s syndrome. Many families also rely on the support of pediatric home health services to help balance schedules and meet care needs ranging from respite care to nutrition assistance to medication administration.
Contact Care Options for Kids for Home Health Care in Florida
It can be hard to balance your time between work, home, and caring for a child. That’s why our team of skilled professionals at Care Options for Kids is here to help. We have been enforcing precautionary measures and following the Centers For Disease Control (CDC) guidelines for COVID-19 to ensure the safety and health of our clients and employees.
Our home health care services offer support in the comfort of your home. We refer loving and competent nurses to provide customized care for families — from a few hours a day to around-the-clock supervision. Contact us directly to speak with a home health care professional or request a free in-home assessment. Together we can determine the best plan of action to keep your loved ones happy and healthy.
If you or a loved one are considering Pediatric Home Health Care Services in Florida, contact the caring staff at Care Options for Kids. Call today at (888) 592-5855.